| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198731666:198731666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1914G>T |
| AA Mutation |
p.Leu638Phe(p.L638F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198712959:198712959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1178G>C |
| AA Mutation |
p.Gly393Ala(p.G393A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442510 |
| Start |
198712980:198712980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1199G>A |
| AA Mutation |
p.Cys400Tyr(p.C400Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |